| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Qualitative or quantitative defects of beta-sarcoglycan +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene